Canonical Allele Identifier: CA400867734
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143254305

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123968G>A , CM000679.2:g.72123968G>A GRCh38
NC_000017.10:g.70120109G>A , CM000679.1:g.70120109G>A GRCh37
NC_000017.9:g.67631704G>A NCBI36
NG_012490.1:g.7949G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1111G>A MANE Select ENSP00000245479.2:p.Ala371Thr
ENST00000245479.2:c.1111G>A ENSP00000245479.2:p.Ala371Thr
NM_000346.3:c.1111G>A NP_000337.1:p.Ala371Thr
NM_000346.4:c.1111G>A MANE Select NP_000337.1:p.Ala371Thr